I31T (p.Ile31Thr) variant of KCNH2 (hERG)
I31T (p.Ile31Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- rs199472833
- ClinGen CA008995
- ClinVar RCV000058274
- ClinVar RCV000181922
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0